Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

Author:

Toland Amanda EwartORCID, ,Forman Andrea,Couch Fergus J.,Culver Julie O.,Eccles Diana M.,Foulkes William D.ORCID,Hogervorst Frans B. L.,Houdayer Claude,Levy-Lahad Ephrat,Monteiro Alvaro N.ORCID,Neuhausen Susan L.,Plon Sharon E.,Sharan Shyam K.,Spurdle Amanda B.,Szabo Csilla,Brody Lawrence C.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference15 articles.

1. Forman, A. & Daly, M. Comparing commercial genetic testing laboratories (US) offering multigene hereditary cancer panels. Paper presented at Sixth International Symposium on Hereditary Breast and Ovarian Cancer. Montreal, Quebec, Canada, May 10–13, 2016.

2. Szabo, C., Masiello, A., Ryan, J. F. & Brody, L. C. The breast information core: database design, structure and scope. Hum. Mutat. 16, 123–131 (2002).

3. Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation for the American College of Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424 (2015).

4. Wallis, Y. et al. Practice guidelines for the evaluation of pathogenicity and the reporting of sequence variants in clinical molecular genetics. Association for Clinical Genetic Sciences. http://www.acgs.uk.com/media/774853/evaluation_and_reporting_of_sequence_variants_bpgs_june_2013_-_finalpdf.pdf . (2013).

5. Landrum, M. J. et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 44, D862–D868 (2016).

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